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NM_000445.5:c.913C>T
Home
NM_000445.5:c.913C>T
HGVS Expressions
NG_012492.1:g.46823C>T
NM_000445.5:c.913C>T
NP_958782.1:p.Gln415Ter
Associated Genes
Plectin
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Genomic Location
chr8:143934923
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
137853160
Clinvar
8264
Epidemiology in the Arab World
View Map
Lebanon
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
612138.1.1
Lebanon
2
Pathogenic
Epidermolysis Bullosa Simplex with Pyloric Atresia
Pfendner and Uitto. 2005
612138.1.2
Lebanon
1
Pathogenic
Pfendner and Uitto. 2005
Mother of 612138.1.1
612138.1.3
Lebanon
1
Pathogenic
Pfendner and Uitto. 2005
Father of 612138.1.1
Download Table
Contributors
Pratibha Nair: 20.07.2020
Edit History
Sayeeda Hana: 16.09.2020
Pratibha Nair: 20.07.2020
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Algeria
Bahrain
Comoros
Country not specified
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Egypt
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Jordan
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Libya
Mauritania
Morocco
Oman
Palestine
Qatar
Saudi Arabia
Somalia
Sudan
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Tunisia
United Arab Emirates
Yemen
Arab Countries with reported incidence
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Non-Arab Countries
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